A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012491



Internal ID10347271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:760901..833513hg38UCSC Ensembl
Innerchr5:761016..833628hg19UCSC Ensembl
Innerchr5:814016..886628hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3872613
hg1972613
hg1872613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760933
Supporting Variants
SamplesRW_0558
Known GenesZDHHC11
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7012491
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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